The UMD-EMD mutations database
References



This database contains 65 references:

  1. 1- Manilal S, Recan D, Sewry CA, Hoeltzenbein M, Llense S, Leturcq F, Deburgrave N, Barbot J, Man N, Muntoni F, Wehnert M, Kaplan J, Morris GE. Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. Hum Mol Genet 1998 May;7(5):855-64.

  2. 2- Laboratoire de biochimie et génétique moléculaire, GH Cochin, Paris, France. Unpublished data.

  3. 3- Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994;8:323-327.

  4. 4- Bione S, Small K, Aksmanovic VMA, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JRW, Warren ST, Toniolo D. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Molec Gene1995;4:1859-1863.

  5. 5- Klauck SM, Wilgenbus P, Yates JRW, Muller CR, Poustka A. Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. Hum Molec Genet 1995;4:1853-1857

  6. 6- Canki-Klain, N. Recan, D. Milicic, D. Llense, S. Leturcq, F. Deburgrave, N. Kaplan, J. C. Debevec, M. Zurak, N. Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy 2000 Croat Med J, 41, 4, 389-95.

  7. 7- Wehnert M. & al. Unpublished

  8. 8- Mora M, Cartegni L, Di Blasi C, Barresi R, Bione S, di Barletta MR, Morandi L, Merlini L, Nigro V, Politano L, Donati MA, Cornelio F, Cobianchi F, Toniolo D. X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. Ann Neurol 1997;42:249-253.

  9. 9- Nigro V, Bruni P, Ciccodicola A, Politano L, Nigro G, Piluso G, Cappa V, Covone AE, Romeo G, D'Urso M. SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. Hum Molec Genet 1995;4:2003-2004.

  10. 10- Wulff K, Parrish JE, Herrmann FH, Wehnert M. Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. Hum Mut 1997;9:526-530.

  11. 11- Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, Tsukahara T, Arahata K. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 1996;12:254-259.

  12. 12- Ichikawa Y, Watanabe M, Kowa H, Murayama S, Mizuno T, Komuro I, Ishiki R, Goto J, Kanazawa I. A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy gene. Ann Neurol 1997;41:399-402.

  13. 13- Small K, Iber J, Warren ST. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Nat Genet 1997;16:96-99.

  14. 14- Small K, Warren ST. Emerin deletions occurring on both Xq28 inversion backgrounds. Hum Molec Genet 1998;7:135-139.

  15. 15- Yamada T, Kobayashi T. A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. Hum Genet 1996;97:693-694.

  16. 16- Kubo S, Tsukahara T, Takemitsu M, Yoon K B, Utsumi H, Nonaka I, Arahata K. Presence of emerinopathy in cases of rigid spine syndrome. Neuromuscul Disord. 1998 Oct;8(7):502-7.

  17. 17-

  18. 18- Ellis JA, Craxton M, Yates JR, Kendrick-Jones J. Aberrant intracellular targeting and cell-cycle dependant phosphorylation of emerin contribute to Emery-Dreifuss muscular dystrophy. J Cell SCi 1998; 111: 781-792.

  19. 19- Fairley EA, Kendrick-Jones J, Ellis JA. The Emery-Dreifuss muscular dystrophy arises from aberrant targeting and binding of emerin at the inner nuclear membrane. J Cell SCi 1999; 112:2571-2582.

  20. 20- Yates JR, Bagshaw J, Aksmanovic VMA, Coomber E, McMahon R, Whittaker JL, Morrisson PJ, Kendrick-Jones J, Ellis JA. Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. Neuromuscul Disord. 1999 May;9(3):159-65.

  21. 21- Buckley AE, Dean J, Mahy IR. Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. Heart. 1999 Jul;82(1):105-8.

  22. 22- Funakoshi M, Tsuchiya Y, Arahata K. Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. Neuromuscul Disord. 1999 Mar;9(2):108-14.

  23. 23- Hasegawa T, Kobayashi K, Arahata K, Itoyama Y. A novel splice-site mutation in the STA gene in a Japanese patient with Emery-Dreifuss muscular dystrophy. Rinsho Shinkeigaku. 1999 Nov;39(11):1138-43.

  24. 24- Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, Ben Yaou R, Richard P, Récan D, Shatunov A, Sewry CA, Brown SC. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain. 2006 May; 129 (Pt 5):1260-8.

  25. 25- Nevo Y, Al-Lozi M, Parsadanian AS, Elliott JL, Connolly AM, Pestronk A. Mutation analysis in Emery-Dreifuss muscular dystrophy. Pediatr Neurol. 1999 Jul;21(1):456-9.

  26. 26- De Koning-Gans PIA, Ginjaar I, Bakker E, Tates JR, den Dunnen JT. A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations. NMD 1999; 9: 247-250.

  27. 27- Hoeltzenbein M, Karow T, Zeller JA, Warzok R, Wulff K, Zschiesche M, Herrmann FH, Grosse-Heitmeyer W, Wehnert MS. Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. NMD 1999; 9: 166-170.

  28. 28- Sabatelli P, Squarzoni S, Petrini S, Capanni C, Ognibene A, Cartegni L, Cobianchi F, Merlini L, Toniolo D, Maraldi NM. Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. NMD 1998; 8: 67-71.

  29. 29- Wulff K, Ebener U, Wehner CS, Ward PA, Reuner U, Hiebsch, Herrmann FH, Wehnert M. Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis. Diseases Markers 1997; 13: 77-86.

  30. 30- Menache CC, Brown CA, Donnelly JH, Shapiro F, Darras BT. Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a Caucasian American family with Emery-Dreifuss muscular dystrophy. Hum Mutat. 2000 Jul;16(1):94.

  31. 31- Ellis JA, Brown CA, Tilley LD, Kendrick-Jones J, Spence JE, Yates JR.Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression. Neuromuscul Disord. 2000 Jan;10(1):24-30.

  32. 32- Di Blasi C, Morandi L, Raffaele di Barletta M, Bione S, Bernasconi P, Cerletti M, Bono R, Blasevich F, Toniolo D, Mora M. Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord. 2000 Dec;10(8):567-71.

  33. 33- Vohanka S, Vytopil M, Bednarik J, Lukas Z, Kadanka Z, Schildberger J, Ricotti R, Bione S, Toniolo D. A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy. NMD 2001; 11: 411-413.

  34. 34- Talkop UA, Talvik I, Sonajalg M, Sibul H, Kolk A, Piirsoo A, Warzok R, Wulff K, Wehnert MS, Talvik T. Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord. 2002 Nov;12(9):878-81.

  35. 35- Nevo Y, Ahituv S, Yaron Y, Kedmi M, Shomrat R, Legum C, Orr-Urtreger A. Novel mutations in the emerin gene in Israeli families. Hum Mutat. 2001;17(6):522.

  36. 36- Muntoni F, Lichtarowicz-Krynska EJ, Sewry CA, Manilal S, Recan D, Llense S, Taylor J, Morris GE, Dubowitz V. Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. Neuromuscul Disord. 1998 Apr;8(2):72-6.

  37. 37- Markiewicz E, Venables R, Mauricio-Alvarez-Reyes, Quinlan R, Dorobek M, Hausmanowa-Petrucewicz I, Hutchison C. Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts. J Struct Biol. 2002 Oct-Dec;140(1-3):241-53.

  38. 38- Ellis JA, Yates JR, Kendrick-Jones J, Brown CA. Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. Hum Genet. 1999 Mar;104(3):262-8.

  39. 39- Paradas C, Marquez C, Gallardo E, de Luna N, Chinchon I, Recan D, Jimenez MD, Illa I. X-linked Emery-Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization. Muscle Nerve. 2005 May 2.

  40. 40- Hong JS, Ki CS, Kim JW, Suh YL, Kim JS, Baek KK, Kim BJ, Ahn KJ, Kim DK.Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B. J Korean Med Sci. 2005 Apr;20(2):283-90.

  41. 41- Niebroj-Dobosz I, Fidzianska A, Hausmanowa-Petrusewicz I. Expression of emerin and lamins in muscle of patients with different forms of Emery-Dreifuss muscular dystrophy. Acta Myol. 2003 Sep;22(2):52-7.

  42. 42- Fidzianska A, Rowinska-Marcinska K, Hausmanowa-Petrusewicz I. Coexistence of X-linked recessive Emery-Dreifuss muscular dystrophy with inclusion body myositis-like morphology. Acta Neuropathol (Berl). 2004 Mar;107(3):197-203. Epub 2004 Jan 8.

  43. 43- Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, Biffi M, Martignani C, Frabetti L, Bonvicini M, Rapezzi C, Branzi A. Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke. 2003 Apr;34(4):901-8. Epub 2003 Mar 20.

  44. 44- Sakata K, Shimizu M, Ino H, Yamaguchi M, Terai H, Fujino N, Hayashi K, Kaneda T, Inoue M, Oda Y, Fujita T, Kaku B, Kanaya H, Mabuchi H. High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. Circulation. 2005 Jun 28;111(25):3352-8.

  45. 45- Ura S, Hayashi YK, Goto K, Astejada MN, Murakami T, Nagato M, Ohta S, Daimon Y, Takekawa H, Hirata K, Nonaka I, Noguchi S, Nishino I. Limb-girdle muscular dystrophy due to emerin gene mutations. Arch Neurol. 2007 Jul;64(7):1038-41.

  46. 46- Rudenskaia GE, Tverskaia SM, Chukhrova AL, Zakliaz'minskaia EV, Kuropatkina IuV, Dadali EL, Perminov VS, Poliakov AV. Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy. Zh Nevrol Psikhiatr Im S S Korsakova. 2006;106(10):58-65. Russian.

  47. 47- Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, Muchir A, Llense S, Deburgrave N, Leturcq F, Litim KE, Rahmoun-Chiali N, Richard P, Babuty D, Récan-Budiartha D, Bonne G. Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? Neurology. 2007 May 29;68(22):1883-94.

  48. 48- Fidzianska A, Hausmanowa-Petrusewicz I. Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD. J Neurol Sci. 2003 Jun 15;210(1-2):47-51.

  49. 49- Ifergane G, Al-Sayed I, Birk O, Harel T, Wirguin I. Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. Eur J Neurol. 2007 Mar;14(3):305-8.

  50. 50- Fidzianska A, Niebrój-Dobosz I, Madej-Pilarczyk A, Duong NT, Wehnert M. X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions. Clin Neuropathol. 2010 Mar-Apr;29(2):78-83.

  51. 51- Astejada MN, Goto K, Nagano A, Ura S, Noguchi S, Nonaka I, Nishino I, Hayashi YK. Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. Acta Myol. 2007 Dec;26(3):159-64.

  52. 52- Karst ML, Herron KJ, Olson TM. X-linked nonsyndromic sinus node dysfunction and atrial fibrillation caused by emerin mutation. J Cardiovasc Electrophysiol. 2008 May;19(5):510-5. Epub 2008 Feb 4.

  53. 53- Niebroj-Dobosz I, Marchel M, Madej A, Sokolowska B, Hausmanowa-Petrusewicz I. Circulating autoantibodies to troponin I in Emery-Dreifuss muscular dystrophy. Acta Myol. 2008 Jul;27:1-6.

  54. 54- Hausmanowa-Petrusewicz I, Madej-Pilarczyk A, Marchel M, Opolski G. Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest. Neurol Neurochir Pol. 2009 Sep-Oct;43(5):415-20.

  55. 55- Kandert S, Wehnert M, Müller CR, Buendia B, Dabauvalle MC. Impaired nuclear functions lead to increased senescence and inefficient differentiation in human myoblasts with a dominant p.R545C mutation in the LMNA gene. Eur J Cell Biol. 2009 Oct;88(10):593-608.

  56. 56- Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Sokolowska B, Hausmanowa-Petrusewicz I. Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients. Acta Biochim Pol. 2009;56(4):717-22.

  57. 57- Nigro G, Russo V, Ventriglia VM, Della Cioppa N, Palladino A, Nigro V, Calabro R, Nigro G, Politano L. Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord. 2010 Mar;20(3):174-7.

  58. 58- Ishikawa K, Mimuro M, Tanaka T. Ventricular Arrhythmia in X-linked Emery-Dreifuss Muscular Dystrophy: A Lesson from an Autopsy Case. Intern Med. 2011;50(5):459-62. Epub 2011 Mar 1.

  59. 59- Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet. 2007 Dec 1;16(23):2816-33. Epub 2007 Aug 29.

  60. 60- Brown CA, Scharner J, Felice K, Meriggioli MN, Tarnopolsky M, Bower M, Zammit PS, Mendell JR, Ellis JA. Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. J Hum Genet. 2011 Aug;56(8):589-94.

  61. 61- Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Soko Owska B, Hausmanowa-Petrusewicz I. Osteopontin - a fibrosis-related marker ? in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy. Scand J Clin Lab Invest. 2011 Dec;71(8):658-62.

  62. 62- Meinke P, Nguyen TD, Wehnert MS. The LINC complex and human disease. Biochem Soc Trans. 2011 Dec 1;39(6):1693-7.

  63. 63- Carboni N, Mura M, Mercuri E, Marrosu G, Manzi RC, Cocco E, Nissardi V, Isola F, Mateddu A, Solla E, Maioli MA, Oppo V, Piras R, Marini S, Lai C, Politano L, Marrosu MG. Neuromuscul Disord. 2012 Feb;22(2):152-8. Neuromuscul Disord. 2011 Oct 10.

  64. 64- Zacharias AS, Wagener ME, Warren ST, Hopkins LC. Emery-Dreifuss muscular dystrophy. Semin Neurol. 1999;19(1):67-79. Review.

  65. 65- Saraiva F, Rodrigues D, Andrade H, Negrão L, Gonçalves L, Marinho A, Providência LA. Emery-Dreifuss muscular dystrophy: Case report. Rev Port Cardiol. 2012 Jan 25.